Thiopurines, poor metabolism of, 2

Preferred Label : Thiopurines, poor metabolism of, 2;

Symbol : THPM2;

CISMeF acronym : THPM2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Nudt15 deficiency;

Inheritance : Autosomal dominant;

Molecular basis : Susceptibility conferred by mutation in the nucleoside diphosphate-linked moiety X motif 15 gene (NUDT15, 615792.0001);

Laboratory abnormalities : Increased toxic thioguanine nucleotides (TGNs) on standard doses of thiopurine drugs; Decreased activity of NUDT15; Decreased metabolism of thiopurine drugs;

Prefixed ID : #616903;

Details

Origin ID

616903;

UMLS CUI

C4225160;

Automatic exact mappings (from CISMeF team)
- Deficiency of nudix hydrolase 15 (disorder) [SNOMED CT concept]
Genes related to phenotype
- Nudix hydrolase 15 [OMIM gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of nudix hydrolase 15 (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients